ClinVar Miner

List of variants reported as uncertain significance for PMM2-CDG by Counsyl

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.341_343AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.523+3A>G rs774107741
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760

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